CORE--DIAGNOSTIC LABORATORY

UAB综合镰状细胞中心的目标是开发新的 治疗并最终治愈镰状细胞病的策略。UAB的 综合镰状细胞中心红细胞诊断和参考 实验室将在提供全面的 红细胞异常的诊断和提供支持， 本UAB CSCC申请中概述的基础和临床研究。 UAB CSCC血红蛋白诊断实验室提供最先进的 诊断构成镰状细胞谱系的各种基因型 疾病UAB CSCC实验室是亚拉巴马的参考实验室 新生儿镰状细胞病筛查计划。实验室还 为亚拉巴马医院的病人提供进一步的检测和诊断 公共卫生、产妇和计划生育诊所。类似服务 提供给向私人医生、诊所和 全国各地的实验室。诊断实验室还接收 来自东南部其他州和其他地区的样本 其他镰状细胞病变异测定国家 血红蛋白病和其他先天性血细胞疾病。这些是 化验所的角色：（1）提供最新的诊断服务， （2）分析转基因动物的血液， UAB基础和临床项目所需的分析测定 CSCC;（3）在临床病理学方面培训血液学研究员和住院医师， 血红蛋白病的诊断和解释 实验室数据;（4）继续作为 国家新生儿血红蛋白病实验室。 迄今为止，实验室活动已产生74份原始出版物 (the完整的清单附在申请表中）， 实验室的专业人员。这导致了定义hew 疾病状态、新的遗传变异和临床上重要的相互作用 血红蛋白的多种遗传变异。

The goal of the UAB Comprehensive Sickle Cell Center is to develop new strategies to treat, and, ultimately, cure sickle cell disease. UAB's Comprehensive Sickle Cell Center Red Cell Diagnostic and Reference Laboratory will play an important role in providing the comprehensive diagnosis of red blood cell abnormalities and in providing a support for the basic and clinical studies outlined in this UAB CSCC application. The UAB CSCC Hemoglobin Diagnostic Laboratory provides state-of-the-art diagnosis of various genotypes constituting the spectrum of sickle cell disease. The UAB CSCC laboratory is the reference lab for the Alabama Neonatal Screening Program for Sickle Cell Disease. The laboratory also provides further testing and diagnosis for patients attending the Alabama Public Health Maternity and Family Planning Clinics. Similar services are provided to patients presenting to private physicians, clinics and laboratories throughout the state. The Diagnostic lab also receives samples from other states in the Southeast and other regions of the country for the determination of variants of sickle cell disease, other hemoglobinopathies and other congenital blood cell disorders. These are the roles of the laboratory: (1) provide up-to-date diagnostic service for all clinics; (2) analyze the blood of transgenic animals and perform analytical assays as needed by the Basic and Clinical Projects of UAB CSCC; (3) train hematology fellows and residents in Clinical Pathology in the diagnosis of hemoglobinopathies and in the interpretation of laboratory data; and (4) continue to serve as a reference lab for the State Neonatal Hemoglobinopathy Laboratory. To date, the laboratory activity has resulted in 74 original publications (the complete list in enclosed in the application) authored by the professional personnel of the lab. This has resulted in defining hew disease states, new genetic variants and clinically important interactions of multiple genetic variants of hemoglobin.